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rs80359650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AA) 6 BRCA2 variant considered pathogenic for breast cancer
(AA;AA) 0 common in clinvar


Make rs80359650(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355267
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359650
ebirs80359650
HLIrs80359650
Exacrs80359650
Varsomers80359650
Maprs80359650
PheGenIrs80359650
hapmaprs80359650
1000 genomesrs80359650
hgdprs80359650
ensemblrs80359650
gopubmedrs80359650
geneviewrs80359650
scholarrs80359650
googlers80359650
pharmgkbrs80359650
gwascentralrs80359650
openSNPrs80359650
23andMers80359650
23andMe allrs80359650
SNP Nexus

SNPshotrs80359650
SNPdbers80359650
MSV3drs80359650
GWAS Ctlgrs80359650
Max Magnitude6
rs80359650, also known as 7642delAA, c.7414_7415delAA and p.Lys2472Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359650(;)
Alt rs80359650(;)
Reference rs80359650(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32929404_32929405delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031676.4, RCV000045203.2, RCV000131030.2,